Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120977 | SCV000168401 | benign | not specified | 2013-10-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000205371 | SCV000261883 | benign | Fanconi anemia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000120977 | SCV000302520 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV001095332 | SCV000481135 | likely benign | Fanconi anemia, complementation group C | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Center for Pediatric Genomic Medicine, |
RCV000432064 | SCV000511767 | likely benign | not provided | 2016-09-20 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Ambry Genetics | RCV000575908 | SCV000673292 | benign | Hereditary cancer-predisposing syndrome | 2016-08-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Integrated Genetics/Laboratory Corporation of America | RCV000432064 | SCV000695429 | benign | not provided | 2016-04-29 | criteria provided, single submitter | clinical testing | Variant summary: The c.416G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 4/4 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 508/120796 control chromosomes (6 homozygotes) at a frequency of 0.0042054. The variant was present predominantly in the African population at a frequency of 4.5% which is about 26 times of the maximal expected frequency of a pathogenic allele (0.0017678), strongli indicating this variant is benign. In addition, publications/clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign. |
Mendelics | RCV000988218 | SCV001137855 | benign | Fanconi anemia, complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120977 | SCV000085145 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Leiden Open Variation Database | RCV000432064 | SCV001365293 | uncertain significance | not provided | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |